A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890250



Internal ID167661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151046518..151046605hg38UCSC Ensembl
chr1:151018994..151019081hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424265
Supporting Variants
Samples
Known GenesBNIPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.018889


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